CHAPTER 9 Patterns of Inheritance 1. Humans have long relied on selective breeding to produce specialized breeds of livestock and pets. Mendel’s principles of inheritance are fundamental to the workings of artificial selection. 2. Variations of Mendel’s laws explain the inheritance patterns of many human traits and diseases. 3. Determining the probability of genetic diseases by following patterns of inheritance enables us to anticipate disease and better address its consequences. Pedigrees and genetic testing are an increasingly common part of modern medicine. Biology and Society: A Matter of Breeding 1. Explain why purebred dogs are important in genetic research. Heritable Variation and Patterns of Inheritance 2. Define and distinguish between self-fertilization, cross-fertilization, true-breeding organisms, hybrids, the P generation, the F1 generation, and the F2 generation. 3. Define and distinguish between the following pairs of terms: heterozygous versus homozygous, dominant allele versus recessive allele, genotype versus phenotype, and phenotypic ratio versus genotypic ratio. 4. Define the law of segregation and explain how it applies to reproduction. 5. Define Mendel’s law of independent assortment and explain how it applies to a dihybrid cross. 6. Explain how a testcross can be performed to determine an organism’s genotype. 7. Explain how and when the rule of multiplication should be used to determine the probability of an event. 8. Explain how a pedigree is used to determine how a particular human trait is inherited. Define a carrier and explain how carriers are revealed in human pedigrees. 9. Compare the frequency and method of inheritance of recessive and dominant disorders. Explain how a dominant lethal allele can be inherited. Variations on Mendel’s Laws 10. Define and distinguish between complete dominance, incomplete dominance, and codominance. 11. Describe the selective advantage of people who are heterozygous for sickle-cell disease. 12. Define and distinguish between pleiotropy and polygenic inheritance. Describe examples of each. 13. Explain how the environment influences the expression of traits. The Chromosomal Basis of Inheritance 14. Define the chromosome theory of inheritance and explain how linked genes are inherited differently from nonlinked genes. 15. Explain why researchers used fruit flies and how they created linkage maps. Sex Chromosomes and Sex-Linked Genes 16. Explain how chromosomes determine the sex of a human. 17. Explain why sex-linked diseases are more common in male humans. 18. Describe the general characters of the following sex-linked disorders in humans: redgreen colorblindness and hemophilia. Evolution Connection: Barking Up the Evolutionary Tree 19. Describe the relationships between the many breeds of dogs. Key Terms ABO blood groups achondroplasia alleles carrier character chromosome theory of inheritance codominance cross dihybrid cross dominant allele F1 generation F2 generation genetics genotype hemophilia heredity heterozygous homozygous Huntington’s disease hybrid hypercholesterolemia inbreeding incomplete dominance law of independent assortment law of segregation linkage map linked genes loci monohybrid cross pedigree P generation phenotype pleiotropy polygenic inheritance Punnett square recessive allele recombination frequency red-green colorblindness rule of multiplication sex-linked gene sickle-cell disease testcross trait true-breeding wild-type traits Word Roots co = together (codominance: phenotype in which both dominant alleles in a heterozygous individual are expressed) di = two (dihybrid: a type of cross that mates varieties differing in two characters) geno = offspring (genotype: an organism’s genetic makeup) hemo = blood; philia = love (hemophilia: a human genetic disease caused by excessive bleeding following an injury) hetero = different (heterozygous: when an organism has different alleles for a gene) homo = alike (homozygous: when an organism has the same alleles for a gene) hyper = excessive (hypercholesterolemia: a condition of incomplete dominance resulting in elevated blood cholesterol levels) mono = one (monohybrid: a type of cross between organisms that differ in only one trait) pheno = appear (phenotype: an organism’s physical traits) pleio = more; trop = change (pleiotropy: when a single gene impacts more than one character) poly = many; gen = produce (polygenic: type of inheritance in which two or more genes affect a single trait) Student Media Activities Monohybrid Cross Dihybrid Cross Gregor’s Garden Incomplete Dominance Linked Genes and Crossing Over Sex-Linked Genes Biology Labs On-Line PedigreeLab FlyLab BLAST Animations Single-Trait Crosses Genetic Variation: Independent Assortment Two-Trait Crosses LabBench Genetics of Organisms MP3 Tutor Chromosomal Basis of Inheritance Process of Science What Can Fruit Flies Reveal about Inheritance? Videos Discovery Channel Video: Colored Cotton Discovery Channel Video: Novelty Gene Ultrasound of Human Fetus 1 Relevant Current Issues in Biology Articles Current Issues in Biology, volume 2 (ISBN 0-8053-7108-7) Does Race Exist? Current Issues in Biology, volume 4 (ISBN 0-8053-3566-8) Founder Mutations Current Issues in Biology, volume 5 (ISBN 0-321-54187-1) Seeking the Connections: Alcoholism and Our Genes Relevant Songs to Play in Class “I Think I’m Going Bald,” Rush “Behind Blue Eyes,” The Who (original) or Limp Bizkit (2003 cover) “Pass the Peas,” James Brown or Maceo Parker Chapter Guide to Teaching Resources Heritable Variation and Patterns of Inheritance Student Misconceptions and Concerns 1. Students might think that dominant alleles are naturally (a) more common, (b) more likely to be inherited, and (c) better for an organism. The text notes that this is not necessarily true. However, this might need to be emphasized further in lecture. 2. Students using Punnett squares need to be reminded that the calculations are expected statistical probabilities and not absolutes. Just as we would expect that any six playing cards dealt might be half black and half red, we frequently find that this is not true. This might be a good time to show how larger sample sizes increase the likelihood that sampling reflects expected ratios. 3. The authors note that Mendel’s work was published in 1866, seven years after Darwin published Origin of Species. Consider challenging your students to consider whether Mendel’s findings were supportive of Darwin’s ideas. Some scientists have noted that Darwin often discussed the evolution of traits by matters of degree. Yet, Mendel’s selection of pea plant traits typically showed complete dominance. Mendel’s pea traits did not show the possibility for such gradual inheritance. Teaching Tips 1. Medical technology raises many ethical issues. Consider asking your students this practical question. How much routine fetal testing do we want our insurance companies to cover and at what cost for insurance? Ultrasound, for example, is routinely performed on pregnant women as a normal part of prenatal care. What other tests should be standard? Who should decide? Who should pay? 2. This early material introduces many definitions that are vital to understanding the later discussions in this chapter. Therefore, students need to be encouraged to master these definitions immediately. This may be a good time for a short quiz to encourage their progress. 3. Many students benefit from a little quick practice with a Punnett square. Have them try these crosses for practice: (a) PP × pp and (b) Pp × pp. 4. Understanding dihybrid crosses may be the most difficult concept in this chapter. Consider spending additional time to make these ideas very clear. As the text indicates, dihybrid crosses are essentially two monohybrid crosses. 5. Many students have trouble with basic statistics. Give your students some practice. Consider having them work in pairs, each with a pair of dice (for large class sizes, this can be done in laboratories). Let them calculate the odds of rolling three sixes in a row and other possibilities. 6. Students also seem to learn much from Figure 9.13 by analyzing the possible genotypes for the people whose complete genotype is not known. Consider challenging your students to suggest the possible genotypes for these people. 7. The 2/3 fraction noted in the discussion of carriers of recessive disorder (and in Figure 9.14) often catches students off guard, as they are expecting odds of 1/4, 1/2, or 3/4. However, we eliminate the dd (deaf) possibility, as it would not be a carrier. So, the odds are based out of the remaining three genotypes Dd, dD, and DD. 8. Genetic tests are now available to inform a person whether they have the Huntington’s allele. The test is especially important to the children of a parent with Huntington’s disease. Consider asking your class: (1) what are the odds of developing Huntington’s disease if a parent has this disease (50%) and (2) whether or not they would want this genetic test. The Huntington Disease Society website (www.hdsa.org) offers many additional details. It is a good starting point for those who want to explore this disease in more detail. 9. As a simple test of comprehension, ask students to explain why lethal alleles are not eliminated from a population. Several possibilities exist: the lethal allele might be recessive, persisting in the population due to the survival of carriers, or the lethal allele might be dominant, but is not expressed until after the age of reproduction. Variations on Mendel’s Laws Student Misconceptions and Concerns 1. As these variations of Mendel’s laws are introduced, students are likely to get confused and become uncertain about the prior definitions. Consider keeping a clear definition of these different patterns of inheritance available for the class to refer to as new patterns are discussed. 2. In larger classes, the chances increase that at least one student has a family member with one of the genetic disorders discussed. Some students may find this embarrassing whereas others might have a special interest in learning more about these potentially personal topics. Teaching Tips 1. Incomplete dominance is analogous to a compromise, or a gray shade. The key concept is that both “sides” have input. Complete dominance is more analogous to an authoritarian style, overruling others and insisting on things being a certain way. Although these analogies might seem obvious to us, many students new to genetics appreciate them. 2. Another analogy for cholesterol receptors is fishing poles. The more fishing poles you use, the more fish you will likely catch. Heterozygotes for hypercholesterolemia have fewer “fishing poles” for cholesterol. Thus, fewer “fish” are caught and more “fish” remain in the water. 3. Students can think of blood types as analogous to socks on their feet. You can have socks that match, a sock on one foot but not the other, you can wear two socks that do not match, or you can even go barefoot (type O blood)! Developed further, think of Amber and Blue socks. Type A blood can have an Amber sock with either another Amber sock or a bare foot (or “zero” sock). Blue socks work the same way. One amber and one blue sock is the AB blood type. No socks, as already noted, represent type O. 4. Consider specifically comparing the principles of codominance (expression of both alleles) and incomplete dominance (expression of one intermediate trait). Students will likely benefit from this direct comparison. 5. The American Sickle Cell Anemia Associations’ website (www.ascaa.org) is a good place to get additional details. 6. Polygenic inheritance makes it possible for children to inherit genes to be taller, or shorter, than either parent. Similarly, skin tones can be darker or lighter than either parent. The environment also contributes significantly to the final phenotype for both of these traits. The Chromosomal Basis of Inheritance Student Misconceptions and Concerns 1. This section of the chapter relies on a good understanding of the chromosome-sorting process of meiosis. If students were not assigned Chapter 8, and meiosis was not otherwise addressed, it will be difficult for students to understand the chromosomal basis of inheritance or linked genes. 2. The nature of linked genes builds on our natural expectations that items that are closely together are less likely to be separated. Yet, students may find such concepts initially foreign. Whether it is parents holding the hands of children or people and their pets, we generally know that separation is more likely when things are farther apart. You might demonstrate this simply by drawing a line down a page of text. The likelihood that the line separates any pair of words increases as the distance between the words grows farther apart. Teaching Tips 1. Building on the shoe analogy developed in Chapter 8, linked genes are like a shoe and its shoelaces. The two are usually transferred together but can be moved separately under special circumstances. 2. Crossing over (from Chapter 8) is like randomly editing out a minute of film from two movies and swapping them. Perhaps the fifth minute of Bambi is swapped for the fifth minute of Gone With the Wind. Clearly, the closer two frames of film are together, the more likely they are to move or remain together. Sex Chromosomes and Sex-Linked Genes Student Misconceptions and Concerns 1. The prior discussion of “linked genes” addresses a different relationship than the use of the similar termed sex-linked genes. The nature of the linkage is quite different. Consider emphasizing this distinction for your students. 2. The likelihood that at least some students are colorblind in larger classes is very high. Some of these students might find this interesting and want to discuss it further. However, others might be embarrassed by what might be perceived as a defect. Teaching Tips 1. In some ways, sex-linked genes reflect the risk of not having a backup copy of a file on your computer. If you only have one copy, and it is damaged, you have to live with the damaged file. Having two X chromosomes in females provides a “backup copy” that can function if one of the sex-linked genes is damaged. 2. For additional information about hemophilia, consider visiting the website of the National Hemophilia Foundation at www.hemophilia.org. Answers to End-of-Chapter Questions The Process of Science 18. Suggested answer: Start out by breeding the cat to get a population to work with. If the curl allele is recessive, two curl cats can have only curl kittens. If the allele is dominant, curl cats can have “normal” kittens. If the curl allele is sex-linked, ratios will differ in male and female offspring of some crosses. If the curl allele is autosomal, the same ratios will be seen among males and females. Once you have established that the curl allele is dominant and autosomal, you can determine if a particular curl cat is true-breeding (homozygous) by doing a testcross with a normal cat. If the curl cat is homozygous, all offspring of the testcross will be curl; if heterozygous, half the offspring will be curl and half normal. 19. Suggested answer: You could start by taking one strain of fruit flies, crossing them with the wild type, and analyzing the offspring. Those offspring could be bred to create the F2 generation, the F2 generation could be bred to create the F3 generation, and so forth. This same procedure could be followed to cross each of the other nine strains against the wild type for multiple generations. Further, the ten strains could be crossed with each other for multiple generations. By examining the results of such crosses, you should be able to determine (a) which traits are dominant and recessive, (b) which traits are sex-linked, and (c) recombination frequencies could be used to create linkage maps. Biology and Society 20. Some issues and questions to consider: Do biologists actually see the structures and molecules of cells? What about past evolutionary processes, the origin of life, the physical appearance or behavior of dinosaurs? In other fields of science, what is the evidence for atoms, subatomic particles, the formation of stars, the composition of Earth’s interior, and the past positions of the continents? How clear does evidence have to be before it is acceptable? What prompts a scientist to propose an explanation? What if more than one explanation can account for the observations? Is it possible to be absolutely sure that an explanation is correct? That it is incorrect? What is the place of words like correct, incorrect, fact, and truth in science? Can some of the facts in this textbook be “wrong”? 21. Some issues and questions to consider: Do you agree with gene testing at any level? Is testing for genetic diseases in embryos any different from testing for Huntington’s disease in adults, or from testing two potential parents to see if they are carriers of a genetic disease? If multiple embryos are created during the in vitro process and only some can be used, should the “best” ones be selected using gene testing? If you agree with the process, should guidelines be developed to prevent abuse of the technology so that parents are not selecting features such as the sex of the child, eye color, or skin tone? Additional Critical Thinking Questions The Process of Science 1. Two parents consult a genetic counselor. They do not understand why all of their sons are colorblind (an X-linked trait) but none of their daughters are colorblind. Both of the parents appear normal. How would you explain this to the parents? Suggested answer: Sons always get their X chromosome from their mother and the Y from their father. In this case, the mother was the carrier of colorblindness. She appeared normal, as did the father (who did not have colorblindness). When they had children, half of mom’s gametes contained the X chromosome with the trait for colorblindness. When fertilized by a Y chromosome, sons were produced. Half of them will be colorblind. For the daughters to be colorblind, they would have had to receive an afflicted X from both their mother and their father. (Red-green colorblindness is a recessive trait.) 2. Cystic fibrosis is a recessive genetic disease. Two parents do not have cystic fibrosis, however their child does. Fully explain how this could have happened. Suggested answer: In this case, both parents are carriers of the defective allele. Since this is a recessive trait, they appear normal; however, half of their gametes contain the defective allele. When an egg with the defective allele is fertilized by a sperm with a defective allele, the embryo will have two defective (recessive) copies and will have the disease. The odds of these heterozygous parents producing a child with cystic fibrosis are 25%. 3. A mother is unsure who the father is of her newborn. Before doing DNA analysis, a simple blood test is performed to give some preliminary information. In this case, two men are the potential father so their blood is also collected. Here is the summary: mom—O, the baby—B, potential father 1—A, potential father 2—AB. Which man is the most likely father? Write an explanation to justify your answer. Suggested answer: The mom is type O, which is recessive (ii). Since the baby is type B blood, his genotype must be (IBi). The real father had to have contributed the IB allele since mom contributed the i allele. Potential father 2 is the only possible dad in this case who has the IB allele to give. Biology and Society 4. Why would it be difficult to develop a genetic test for a polygenic disorder? Some issues and questions to consider: For polygenic traits, different mutations in different genes may have the same or similar phenotypic effects. It would be difficult to test for all possible mutations for all genes involved. However, if a specific mutation is known to run in a family, members of that family can be tested for that specific mutation. 5. As the Human Genome Project progresses, we are learning more and more about genetic differences that cause genetic disease. Some people advocate the use of this knowledge to ultimately develop gene therapy. The goal of gene therapy would be to find alleles that are “faulty” and to correct them with normal alleles. Ideally, to “fix” every cell in an individual, this process would need to occur in embryos. Let’s suppose a couple found out that later in their embryo’s life, their baby would develop an incurable disease such as Alzheimer’s disease. Would you advocate the use of gene therapy in the embryo to correct the problem before the child was ever born? What if the embryo did not appear likely to develop a genetic disease, but the parents decided that they would really prefer that their child have blue eyes as opposed to brown. Would you advocate the use of gene therapy in this case? Should the use of this therapy be limited? Who should decide those limits? Some issues and questions to consider: How do we decide what is “serious” versus what is not critical? If the technology existed, should there be any reason not to use it in any situation? Who should set the limitations to prevent abuse of the technology?